Canonical Allele Identifier: CA2754678596
Gene: ATG16L1 HGNC NCBI
SCARNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275948_233275949insAT , CM000664.2:g.233275948_233275949insAT GRCh38
NC_000002.11:g.234184594_234184595insAT , CM000664.1:g.234184594_234184595insAT GRCh37
NC_000002.10:g.233849333_233849334insAT NCBI36
NG_023038.1:g.29378_29379insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+1170_954+1171insAT (ATG16L1) MANE Select ENSP00000375872.4:n.954+1170_954+1171insAT
ENST00000347464.9:c.465+1170_465+1171insAT (ATG16L1) ENSP00000318259.6:n.465+1170_465+1171insAT
ENST00000373525.9:c.522+1170_522+1171insAT (ATG16L1) ENSP00000362625.5:n.522+1170_522+1171insAT
ENST00000392017.8:c.954+1170_954+1171insAT (ATG16L1) ENSP00000375872.4:n.954+1170_954+1171insAT
ENST00000392018.1:c.1005+1170_1005+1171insAT (ATG16L1) ENSP00000375873.1:n.1005+1170_1005+1171insAT
ENST00000392020.8:c.897+1170_897+1171insAT (ATG16L1) ENSP00000375875.4:n.897+1170_897+1171insAT
ENST00000392021.7:c.*835+1170_*835+1171insAT (ATG16L1) ENSP00000375876.3:n.*835+1170_*835+1171insAT
ENST00000419681.5:c.465+1170_465+1171insAT (ATG16L1) ENSP00000398773.1:n.465+1170_465+1171insAT
ENST00000464645.5:n.89+481_89+482insAT (ATG16L1)
ENST00000474148.5:n.1749+1170_1749+1171insAT (ATG16L1)
ENST00000479942.5:n.1100+1170_1100+1171insAT (ATG16L1)
ENST00000492298.5:n.475+1170_475+1171insAT (ATG16L1)
ENST00000498620.5:n.461+1170_461+1171insAT (ATG16L1)
NM_001190266.1:c.702+1170_702+1171insAT (ATG16L1) NP_001177195.1:n.702+1170_702+1171insAT
NM_001190267.1:c.606+1170_606+1171insAT (ATG16L1) NP_001177196.1:n.606+1170_606+1171insAT
NM_017974.3:c.897+1170_897+1171insAT (ATG16L1) NP_060444.3:n.897+1170_897+1171insAT
NM_030803.6:c.954+1170_954+1171insAT (ATG16L1) NP_110430.5:n.954+1170_954+1171insAT
NM_198890.2:c.465+1170_465+1171insAT (ATG16L1) NP_942593.2:n.465+1170_465+1171insAT
NR_003008.2:n.223_224insAT (SCARNA5)
XM_005246082.1:c.1005+1170_1005+1171insAT (ATG16L1) XP_005246139.1:n.1005+1170_1005+1171insAT
XM_005246084.1:c.573+1170_573+1171insAT (ATG16L1) XP_005246141.1:n.573+1170_573+1171insAT
XM_005246086.1:c.522+1170_522+1171insAT (ATG16L1) XP_005246143.1:n.522+1170_522+1171insAT
XM_006712608.1:c.753+1170_753+1171insAT (ATG16L1) XP_006712671.1:n.753+1170_753+1171insAT
XR_241242.1:n.1199+1170_1199+1171insAT (ATG16L1)
NM_001363742.1:c.1005+1170_1005+1171insAT (ATG16L1) NP_001350671.1:n.1005+1170_1005+1171insAT
XM_005246084.2:c.573+1170_573+1171insAT (ATG16L1) XP_005246141.1:n.573+1170_573+1171insAT
XM_005246086.2:c.522+1170_522+1171insAT (ATG16L1) XP_005246143.1:n.522+1170_522+1171insAT
XM_006712608.3:c.753+1170_753+1171insAT (ATG16L1) XP_006712671.1:n.753+1170_753+1171insAT
XR_001738801.2:n.1135+1170_1135+1171insAT (ATG16L1)
XR_241242.3:n.1186+1170_1186+1171insAT (ATG16L1)
NM_030803.7:c.954+1170_954+1171insAT (ATG16L1) MANE Select NP_110430.5:n.954+1170_954+1171insAT
NM_001190266.2:c.702+1170_702+1171insAT (ATG16L1) NP_001177195.1:n.702+1170_702+1171insAT
NM_001190267.2:c.606+1170_606+1171insAT (ATG16L1) NP_001177196.1:n.606+1170_606+1171insAT
NM_001363742.2:c.1005+1170_1005+1171insAT (ATG16L1) NP_001350671.1:n.1005+1170_1005+1171insAT
NM_017974.4:c.897+1170_897+1171insAT (ATG16L1) NP_060444.3:n.897+1170_897+1171insAT
NM_198890.3:c.465+1170_465+1171insAT (ATG16L1) NP_942593.2:n.465+1170_465+1171insAT